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Updated: Jul 16, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Congenital long QT syndrome]
Luis Alfredo Melgar Quicaño1, Fredy Chipa Ccasani1
1Instituto Nacional de Salud del Niño, San Borja. Lima, Perú Instituto Nacional de Salud del Niño Lima Perú.
Congenital long QT syndrome (LQTS) is a genetic heart condition causing dangerous arrhythmias and sudden death. Management focuses on symptom reduction, lifestyle changes, medication, and sometimes invasive procedures to prevent fatal events.
Area of Science:
- Cardiology
- Genetics
- Electrocardiography
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